1. A. Boukhris, G. Stevanin, I. Feki, P. Denora, N. Elleuch, M. I. Miladi, C. Goizet, J. Truchetto, S. Belal, A. Brice, and C. Mhiri. Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity. Clin Genet, 75(6):527-36, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tDenmark. [WWW] Keyword(s): Adolescent, Adult, Aged, Aged, 80 and over, Brain/pathology, Child, Consanguinity, Female, Genes, Recessive, *Genetic Heterogeneity, Humans, Male, Middle Aged, Mutation, *Phenotype, Spastic Paraplegia, Hereditary/*epidemiology/*genetics/pathology, Sural Nerve/pathology, Tunisia/epidemiology.



2. P. S. Denora, D. Schlesinger, C. Casali, F. Kok, A. Tessa, A. Boukhris, H. Azzedine, M. T. Dotti, C. Bruno, J. Truchetto, R. Biancheri, E. Fedirko, M. Di Rocco, C. Bueno, A. Malandrini, R. Battini, E. Sickl, M. F. de Leva, O. Boespflug-Tanguy, G. Silvestri, A. Simonati, E. Said, A. Ferbert, C. Criscuolo, K. Heinimann, A. Modoni, P. Weber, S. Palmeri, M. Plasilova, F. Pauri, D. Cassandrini, C. Battisti, A. Pini, M. Tosetti, E. Hauser, M. Masciullo, R. Di Fabio, F. Piccolo, E. Denis, G. Cioni, R. Massa, E. Della Giustina, O. Calabrese, M. A. Melone, G. De Michele, A. Federico, E. Bertini, A. Durr, K. Brockmann, M. S. van der Knaap, M. Zatz, A. Filla, A. Brice, G. Stevanin, and F. M. Santorelli. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat, 30(3):E500-19, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Algeria, Base Sequence, Brazil, Corpus Callosum/*abnormalities, DNA Mutational Analysis, Family Health, Female, *Gene Deletion, Gene Frequency, Genes, Recessive, Genetic Screening, Genotype, Haplotypes, Humans, Male, Middle Aged, Morocco, *Mutation, Pedigree, Portugal, Proteins/*genetics, Spastic Paraplegia, Hereditary/diagnosis/ethnology/*genetics, Young Adult.



3. C. Goizet, A. Boukhris, A. Durr, C. Beetz, J. Truchetto, C. Tesson, M. Tsaousidou, S. Forlani, L. Guyant-Marechal, B. Fontaine, J. Guimaraes, B. Isidor, O. Chazouilleres, D. Wendum, D. Grid, F. Chevy, P. F. Chinnery, P. Coutinho, J. P. Azulay, I. Feki, F. Mochel, C. Wolf, C. Mhiri, A. Crosby, A. Brice, and G. Stevanin. CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain, 132(Pt 6):1589-600, 2009. Note: Journal ArticleMulticenter StudyResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adolescent, Adult, Aged, Animals, Base Sequence, Brain/pathology, Codon, Nonsense/*genetics, Female, Genes, Recessive, Genetic Variation, Heterozygote, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense/*genetics, Pedigree, Point Mutation, Spastic Paraplegia, Hereditary/*genetics/pathology, Species Specificity, Steroid Hydroxylases/*genetics, Young Adult.



4. C. Goizet, A. Boukhris, D. Maltete, L. Guyant-Marechal, J. Truchetto, E. Mundwiller, S. Hanein, P. Jonveaux, F. Roelens, J. Loureiro, E. Godet, S. Forlani, J. Melki, M. Auer-Grumbach, J. C. Fernandez, P. Martin-Hardy, I. Sibon, G. Sole, I. Orignac, C. Mhiri, P. Coutinho, A. Durr, A. Brice, and G. Stevanin. SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Neurology, 73(14):1111-9, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



5. C. Goizet, A. Boukhris, E. Mundwiller, C. Tallaksen, S. Forlani, A. Toutain, N. Carriere, V. Paquis, C. Depienne, A. Durr, G. Stevanin, and A. Brice. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat, 30(2):E376-85, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Base Sequence, Child, Child, Preschool, DNA Mutational Analysis, Female, Gene Frequency, Humans, Kinesin/*genetics, Male, Middle Aged, Molecular Sequence Data, Mutation/genetics, Pedigree, Spastic Paraplegia, Hereditary/*genetics.



6. A. Boukhris, I. Feki, E. Denis, M. I. Miladi, A. Brice, C. Mhiri, and G. Stevanin. Spastic paraplegia 15: linkage and clinical description of three Tunisian families. Mov Disord, 23(3):429-33, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited Statesofficial journal of the Movement Disorder Society. [WWW]



7. A. Boukhris, G. Stevanin, I. Feki, E. Denis, N. Elleuch, M. I. Miladi, J. Truchetto, P. Denora, S. Belal, C. Mhiri, and A. Brice. Hereditary Spastic Paraplegia With Mental Impairment and Thin Corpus Callosum in Tunisia: SPG11, SPG15, and Further Genetic Heterogeneity. Arch Neurol, 65(3):393-402, 2008. Note: Journal article. [WWW]



8. P. S. Denora, D. Schlesinger, C. Casali, F. Kok, A. Tessa, A. Boukhris, H. Azzedine, M. T. Dotti, C. Bruno, J. Truchetto, R. Biancheri, E. Fedirko, M. Di Rocco, C. Bueno, A. Malandrini, R. Battini, E. Sickl, M. F. de Leva, O. Boespflug-Tanguy, G. Silvestri, A. Simonati, E. Said, A. Ferbert, C. Criscuolo, K. Heinimann, A. Modoni, P. Weber, S. Palmeri, M. Plasilova, F. Pauri, D. Cassandrini, C. Battisti, A. Pini, M. Tosetti, E. Hauser, M. Masciullo, R. D. Fabio, F. Piccolo, E. Denis, G. Cioni, R. Massa, E. D. Giustina, O. Calabrese, M. A. Melone, G. De Michele, A. Federico, E. Bertini, A. Durr, K. Brockmann, M. S. van der Knaap, M. Zatz, A. Filla, A. Brice, G. Stevanin, and F. M. Santorelli. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat, 2008. Note: Journal article. [WWW]



9. C. Goizet, A. Boukhris, E. Mundwiller, C. Tallaksen, S. Forlani, A. Toutain, N. Carriere, V. Paquis, C. Depienne, A. Durr, G. Stevanin, and A. Brice. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat, 2008. Note: Journal article. [WWW]



10. S. Hanein, E. Martin, A. Boukhris, P. Byrne, C. Goizet, A. Hamri, A. Benomar, A. Lossos, P. Denora, J. Fernandez, N. Elleuch, S. Forlani, A. Durr, I. Feki, M. Hutchinson, F. M. Santorelli, C. Mhiri, A. Brice, and G. Stevanin. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet, 82(4):992-1002, 2008. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



11. G. Stevanin, H. Azzedine, P. Denora, A. Boukhris, M. Tazir, A. Lossos, A. L. Rosa, I. Lerer, A. Hamri, P. Alegria, J. Loureiro, M. Tada, D. Hannequin, M. Anheim, C. Goizet, V. Gonzalez-Martinez, I. Le Ber, S. Forlani, K. Iwabuchi, V. Meiner, G. Uyanik, A. K. Erichsen, I. Feki, F. Pasquier, S. Belarbi, V. T. Cruz, C. Depienne, J. Truchetto, G. Garrigues, C. Tallaksen, C. Tranchant, M. Nishizawa, J. Vale, P. Coutinho, F. M. Santorelli, C. Mhiri, A. Brice, and A. Durr. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain, 131(Pt 3):772-84, 2008. Note: SPATAX consortiumJournal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW]



12. I. Feki, M. I. Miladi, N. Elleuch, A. Boukhris, G. Stevanin, A. Brice, and C. Mhiri. [Familial spastic paraplegia with severe amyotrophy of the hands. (Silver syndrome?)]. Rev Neurol (Paris), 163(4):476-9, 2007. Note: Case ReportsEnglish AbstractJournal ArticleFrance. [WWW] Keyword(s): Adult, Brachial Plexus Neuritis/genetics/*pathology, Electric Stimulation, Electromyography, Evoked Potentials, Somatosensory/physiology, Female, Foot/pathology, Hand/*pathology, Humans, Magnetic Resonance Imaging, Male, Neurologic Examination, Paraplegia/genetics/*pathology, Pedigree, Syndrome.

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